Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		202 0 1 5.0E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 4.7E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 4.6E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 4.4E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 4.1E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 3.1E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 1 2.5E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 1 1.7E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 0 1 1.6E-03 0 0
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		615 0 1 1.6E-03 0 0
CUI: C0025286
Disease: Meningioma
Meningioma 		634 0 1 1.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.4E-03 0 0
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		762 0 1 1.3E-03 0 0
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		771 0 1 1.3E-03 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 0 1 1.2E-03 0 0
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		853 0 1 1.2E-03 0 0
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		855 0 1 1.2E-03 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		862 0 1 1.2E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0